Rush Center for Congenital
and Structural Heart Disease

SYMPTOMS 

Pre-natal & Neonatal History

The neonatal period is the time when many congenital heart diseases manifest themselves, as it is the time when the fetal circulation changes over to that of post-natal circulation.  Cyanosis, shortness of breath, or the need to stay in the hospital for prolonged period may be indicators to cardiovascular problems.  On the other hand, because of normally elevated pulmonary arterial vascular resistance in the neonatal period, the pulmonary arterial pressure remains high.  This may cause many left to right shunting lesions, such ASD, BVSD and PDA to be silent due to low velocity shunting.

Red Flags!  What to think of when encountering specific historical information?

 

Symptom Possible Cause
Maternal Diabetes Hypertrophic cardiomyopathy, d-TGA, VSD, Coarctation of the aorta
Maternal Lupus AV Block, dilated cardiomyopathy, L-TGA
Maternal Alcohol Abuse VSD, ASD, TOF, Coarctation of the aorta
Maternal Rubella PDA, PPS, VSD, ASD, fibromuscular and intimal proliferation of medium and large arteries.
Down's syndrome 40% have CHD, these include:  AVC, VSD, ASD, TOF, PDA, from most common to least common
Turner syndrome Coarctation of the aorta, bicuspid aortic valve, aortic dilatation, dissection and rupture
Noonan syndrome 50% of cases:  PS, conduction abnormalities (SAD), ASD, VSD, TOF, sub AS, complex CHD
 

Bluish Discoloration
Bluish discoloration of the skin or mucosa is termed cyanosis.  This is caused by an increase in the percentage of de-oxygenated hemoglobin, which is blue in color.  Increase in the level of de-oxygenated hemoglobin could be because of central reasons such as cyanotic congenital heart disease or lung disease rendering the blood ejected out of the heart and into the aorta not fully oxygenated, i.e. blue in color, causing bluish discoloration in the lips and nail beds as well as the entire skin and mucosa.  On the other hand, deprivation of blood supply to a peripheral body part will cause peripheral cyanosis (acrocyanosis).  Peripheral cyanosis is seen in cases as  in tourniquet application to a limb, such as when the cuff of a blood pressure device is inflated, or in case of vasoconstriction due to cold weather or poor cardiac output.  The blood entering through the arterial system to the blood deprived limb is fully saturated and pink in color.  However, due to the limited blood supply, the tissues of that limb will increase its oxygen extraction causing significant drop in the level of oxygenated hemoglobin and an increase in de-oxygenated hemoglobin resulting in cyanosis.

Shortness of Breath (S.O.B.)
Most congenital heart diseases are associated with increase pulmonary blood flow.  Whenever there is normal or near normal pulmonary arterial anatomy together with a communication between the systemic and pulmonary circulations, blood will shunt left to right causing increase in pulmonary blood flow.  The preference of blood to shunt left to right rather than right to left whenever there is a septal defect is because the pulmonary vascular resistance (about 3 Wood units) is so much less than the systemic vascular resistance (25 Wood units).  This makes it easier for blood to go to the pulmonary circulation rather than the systemic circulation.
Lungs with increased blood flow will have its vasculature engorged, resulting in interstitial edema.  The excess fluid in the lung tissues will therefore act as a barrier for proper gaseous exchange, rendering the process less effective.  To compensate the respiratory rate and effort increases manifesting as respiratory distress.

Easy Fatigability & Failure to Thrive
Children with respiratory distress and poor cardiac output due to heart disease cannot feed well as it requires considerable effort to suckle resulting in easy fatigability and failure to thrive.

Syncope
Loss of consciousness may occur secondary to neurological or cardiac reasons.  Cardiac etiologies of syncope share the same outcome:  significant reduction of cardiac output.  This may result through one of the following mechanisms:
Arrhythmia:  A heart rate that is too fast to allow for proper filling of ventricles prior to contraction will cause reduced cardiac output.  Also, a heart rate too slow to generate adequate cardiac output will aslo result in syncope.
Obstruction to blood flow:  Patients with severe hypertrophy of the ventricular septum resulting in LVOT obstruction may develop syncope if the obstruction due to muscular contraction becomes acutely more severe.  also obstruction of the right ventricular outflow tract, such as with TOF, may also cause acute restriction of blood flow.  In the latter example, this is complicated by excessive and acute right to left shunting making the reduced cardiac output significantly oxygen de-saturated.
Cardioneurogenic syncope:  A combination of reduced venous return and bradycardia causes drop in cardiac output, resulting in syncope.  See below for details.

Palpitation:
Indicates abnormal heart rhythm which may be too slow, too fast or just irregular.  Children may complain of chest pain when they are actually experiencing arrhythmias.

Chest pain:
Chest pain is rarely due to cardiac reasons in the pediatric age group.  Myocardial infarction may occur in children such as with anomalous left coronary artery from pulmonary artery, coronary arterial wall thickening in Williams syndrome, or Kawasaki disease.  However, in the majority of these cases chest pain is not verbalized.
Chest pain in most instances is due to non-cardiac reasons such as:
Costochondritis:  viral inflammation of the costochondral joints.  Usually preceded by a viral illness.  There is reproducible pain when palpating costochondral joints involved.  Treat with anti-inflammatory agent, may reoccur.  Tends to occur more commonly in teenage girls.
Musculo-skeletal:  Due to muscle strain such as with exercise, particularly weight lifting.  Characterized by worsening when using involved muscles.
Pleural-pericardial pain: due to inflammation
Skin disease:  such as herpes zoster, or other lesions.

 

SIGNS

When performing cardiovascular examination in children one should follow the usual sequence of assessment:  inspection, palpation then auscultation.  Percussion has no significant role in pediatric cardiovascular assessment, particularly in infants and young children.

 

INSPECTION


First, the general appearance of the baby or child should be assessed.  The examiner should ask him or herself the following:
Is the child too ill?  Is there significant respiratory distress?  Is there cyanosis?  Does the child have syndromic features, such as Down's syndrome, etc?
Cyanosis is caused by an increase in the level of de-oxygenated hemoglobin which has a blue color in contrast to oxygenated hemoglobin which has a pink color.  A level of 2 g/dl of de-oxygenated hemoglobin in the blood is required before cyanosis is noticeable.  

 

Scenario O2% saturation O2% Desaturation Hgb concentration (g/dl) De-oxygenated Hgb Comments
1 95% 5% 14 g/dl 0.7 g/dl Normal, no cyanosis
2 85% 15% 14 g/dl 2.1 g/dl cyanosis
3 85% 15% 5 g/dl 0.75 g/dl anemia, no cyanosis
4 95% 5% 25 g/dl 1.25 g/dl borderline cyanosis

Scenario "1" is that of a normal child.  The level of de-oxygenated blood in arterial circulation is too low to cause noticeable cyanosis.  Scenario "2" is that of cyanotic congenital heart disease.  The de-oxygenated hemoglobin level in the blood is high enough to cause cyanosis.  Scenario "3" is that of severe anemia and oxygen saturation, but without noticeable cyanosis.  The level of O2 desaturation (85%) is enough to normally cause cyanosis, however, due to the anemia, the level of hemoglobin which would be desaturated is too low to cause any significant bluish discoloration of the blood.

Edema
Unlike congestive heart failure in the adult population, edema is not a common feature of CHF in children.  When present it is best detected over the sacral region, particularly in babies.  Swelling of the head and distended neck veins is noted in patients with Glenn shunt and increase pulmonary vascular resistance.

Clubbing of Digits
Clubbing of the digits occurs because of hypoxia.  Peripheral tissues are most vulnerable to hypoxia, therefore with cyanosis and poor cardiac output, the peripheral tissues get around the low oxygen supply by opening many capillaries causing swelling of the digits.  Clubbing is seen in other lesions with low oxygen supply such as with lung diseases or diseases causing chronic anemia, such as hepatic diseases and irritable bowel diseases.

 

PALPATION

Peripheral perfusion:  Normally is 1-2 seconds in duration.  Prolonged capillary refill time indicates poor cardiac output.  It should be noted thought, that a brisk capillary refill is seen, despite poor cardiac output in cases where the peripheral vasculature are forced to vasodilate such as with sepsis or the use of pharmacologic agents.
Femoral an brachial arterial pulses should be felt simultaneously to assess their strength and timing.  In coarctation of the aorta the femoral pulsation is weaker and delayed in timing when compared to the brachial arterial pulse.  It is important when doing this assessment to use the right brachial arterial pulse, as the left subclavian may be involved or distal in its origin tot he coarctation and will therefore be as weak as the femoral arterial pulse.
Peripheral pulses also gives a sense of the cardiac output, systolic and diastolic pressures.  Poor cardiac output results in low systolic and high diastolic blood pressure, hence a narrow pulse pressure.  On the other hand, a low diastolic BP, such as with PDA or aortic regurgitation will cause a wide pulse pressure.

 

Normal pulse pressure

Narrow pulse pressure

Wide pulse pressure

Hepatomegaly, and rarely hepato-spleenomegaly is seen in CHF due to elevated central venous pressure.
A palpable thrill over the precordium or suprasternal notch indicates significant murmur.  The RV impulse (left lower sternal border) and LV (apical) impulse may indicate hypertrophy or hypoplasia of that chamber.

 

AUSCULTATION


Lungs
Rarely crackles are heard in pulmonary edema since breathing sounds in children is bronchial in nature and not alveolar as heard in adults.   Therefore, even significant edema may not cause audible pulmonary changes.

Heart
First heart sound (S1):  Closure of atrio-ventricular valves.
Second heart sound (S2):  A2: closure of aortic valve, P2: closure of pulmonary valve
Single S2 = absent pulmonary or aortic component or delayed closure of P2 superimposing A2
inaudible P2 due to TGA
Does the splitting of S2 vary with respiration?
Added sounds:  Gallop rhythm: S3, S4

Murmurs
Are sounds caused by the turbulence of blood flow.  Physiologic blood flow is laminar and as such is smooth and noiseless.  Turbulence of blood flow results from abnormal blood flow from a high pressure chamber/vessel to a lower pressure chamber/vessel.  This may be due to an abnormal communication (e.g. VSD), or narrowing of a passageway (e.g. valve or artery stenosis), or increase in volume of blood flow (e.g. ASD, anemia).
Grades: 1-6, one being the softest and six being the loudest.
By definition grade four murmur is associated with a palpable thrill.

Systolic murmur:
 

Holosystolic murmur:
Definition: Murmur heard throughout systole, typically in a plateau fashion.  This typically extends throughout systole and therefore, obscures S1 and S2.  Holosystolic murmur indicate shunting of blood between two structures in which the pressure in one structure is higher than the other throughout systole, example:
Harsh: VSD
Soft: Atrio-ventricular valve regurgitation such as mitral regurgitation.  Tricuspid regurgitation is audible only with pulmonary (RV) hypertension.

Ejection systolic murmur:
Definition: Murmur heard in systole, in a crescendo-decrescendo fashion.  The murmur is mid-systolic and is preceded by a click due to opening of an abnormal (thickened) pulmonary or aortic valves.  Ejection systolic murmurs indicate shunting of blood between two structures in which the pressure in one structure is higher than the other in mid-systole, example:
Increase in blood flow turbulence as systole progresses due to an increasing amount of blood flow through a restricted orifice, such as:
Aortic stenosis
Pulmonary stenosis

 

Mid-systolic murmur:
Definition: Murmur heard in systole, in a crescendo-decrescendo fashion.  The murmur is mid-systolic and NOT associated with a click.  Ejection systolic murmurs indicate shunting of blood between two structures in which the pressure in one structure is higher than the other in mid-systole, example:
Increase volume of blood flowing through normal valves
ASD, this murmur is associated with a mid-diastolic murmur and fixed splitting of second heart sound
Anemia

Or small VSD, which is not open throughout systole due to constricting effecting of contracting myocardial fibers.

 

Diastolic murmurs
 

Early diastolic murmur:
Definition: Murmur heard in early diastole, in a decrescendo fashion.  The murmur immediately follows S2.  This murmur represents leakage of blood through aortic or pulmonary valve (pulmonary regurgitation is heard only in association with pulmonary hypertension). 
Examples:
Aortic insufficiency
Pulmonary insufficiency

Systolic and diastolic murmur:
Definition: Murmur heard in systole and diastole, in a continuous fashion.  The murmur may obscure S1 and S2.  This murmur represents blood flow from a systemic artery to other structures, such as:
Systemic artery to pulmonary artery: PDA, collateral
Systemic artery to vein:  arteriovenous fistula
Systemic artery to right ventricle: coronary artery-RV fistula

Soft continuous murmur over the neck may represent venous hum, an innocent heart murmur.

Friction rub:
Definition: Murmur heard in a continuous fashion, regardless of cardiac cycle and may change in character in different patient positions (supine, on side, sitting, etc.)